Variant report

Variant	rs12251396
Chromosome Location	chr10:873148-873149
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:873042-873253	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:867286..872022-chr10:872984..878104,5	K562	blood:

Variant related genes	Relation type
LARP4B	TF binding region
ENSG00000107929	Chromatin interaction

Extended variants
information (count: 121 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs1013505	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10508208	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10904577	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10904580	1.00[ASN][1000 genomes]
rs10904581	1.00[ASN][1000 genomes]
rs10904583	1.00[ASN][1000 genomes]
rs10904584	1.00[ASN][1000 genomes]
rs1106064	1.00[ASN][1000 genomes]
rs11253458	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253459	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11253460	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253462	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11253465	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253467	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253468	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253473	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253475	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253485	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253488	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253492	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253493	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253494	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253495	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11253499	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253509	1.00[ASN][1000 genomes]
rs11253511	1.00[ASN][1000 genomes]
rs11253513	1.00[ASN][1000 genomes]
rs11253517	1.00[ASN][1000 genomes]
rs11253520	1.00[ASN][1000 genomes]
rs11253521	1.00[ASN][1000 genomes]
rs11812170	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11812523	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11813210	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11815185	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11816064	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11817793	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11818288	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11818325	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12240651	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12244253	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12244355	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12249634	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12249828	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12250936	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12250937	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12254002	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12258388	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12259338	1.00[ASN][1000 genomes]
rs12259720	1.00[ASN][1000 genomes]
rs12259801	1.00[ASN][1000 genomes]
rs12260800	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12261911	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12264390	1.00[ASN][1000 genomes]
rs12264711	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12267709	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12354639	1.00[ASN][1000 genomes]
rs12359645	1.00[ASN][1000 genomes]
rs12360270	1.00[ASN][1000 genomes]
rs12761424	1.00[ASN][1000 genomes]
rs12762973	1.00[ASN][1000 genomes]
rs12763396	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12764024	1.00[ASN][1000 genomes]
rs12765174	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12766381	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12769431	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12769873	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12770190	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12778891	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12783472	1.00[ASN][1000 genomes]
rs13377166	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1341741	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1341742	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1539174	1.00[ASN][1000 genomes]
rs1555899	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159950	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159970	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2050944	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34254874	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34270014	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34284130	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34405399	1.00[ASN][1000 genomes]
rs34433840	1.00[ASN][1000 genomes]
rs34847097	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35174953	1.00[ASN][1000 genomes]
rs35394603	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35567307	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35637113	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35693858	1.00[ASN][1000 genomes]
rs35825568	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35968821	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4522091	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56318703	1.00[ASN][1000 genomes]
rs56347655	1.00[ASN][1000 genomes]
rs61830929	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61830932	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66631678	0.90[AMR][1000 genomes]
rs7067865	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7074642	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7077278	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72778215	0.90[AMR][1000 genomes]
rs72778229	1.00[ASN][1000 genomes]
rs765867	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7908138	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916591	chr10:224406-1088734	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv540386	chr10:224406-1197416	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1048859	chr10:442805-887622	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
4	nsv1039958	chr10:450753-889167	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
5	nsv540400	chr10:450753-889167	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
6	nsv549753	chr10:458477-894838	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
7	nsv1054659	chr10:611444-1133578	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
8	nsv948602	chr10:708293-944641	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv949063	chr10:708293-974870	Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv466697	chr10:734229-1129527	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
11	nsv549765	chr10:734229-1129527	Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
12	nsv1043812	chr10:776547-981126	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
13	nsv540406	chr10:776547-981126	Bivalent Enhancer Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
14	nsv530116	chr10:776548-1401075	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
15	nsv948978	chr10:813426-1019115	Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
16	nsv1048707	chr10:834439-915534	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
17	nsv466698	chr10:836115-888073	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
18	nsv549766	chr10:836115-888073	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:849600-877800	Strong transcription	Fetal Intestine Small	intestine
2	chr10:850800-877800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr10:851000-883000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr10:851200-877800	Strong transcription	Fetal Stomach	stomach
5	chr10:851400-878600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr10:851600-876600	Strong transcription	Sigmoid Colon	Sigmoid Colon
7	chr10:851600-883000	Strong transcription	Fetal Intestine Large	intestine
8	chr10:851600-889800	Strong transcription	Dnd41	blood
9	chr10:851600-890800	Strong transcription	Duodenum Mucosa	Duodenum
10	chr10:851600-895600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr10:851800-877800	Strong transcription	Liver	Liver
12	chr10:851800-879000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr10:851800-894000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr10:851800-895800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr10:852000-876200	Strong transcription	Ovary	ovary
16	chr10:852000-877200	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr10:852000-882800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr10:852200-877800	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr10:852200-956400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr10:852400-875600	Strong transcription	Thymus	Thymus
21	chr10:852400-876800	Strong transcription	Duodenum Smooth Muscle	Duodenum
22	chr10:852400-877800	Strong transcription	Primary hematopoietic stem cells	blood
23	chr10:852600-877600	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr10:852600-883400	Strong transcription	Primary T cells from cord blood	blood
25	chr10:852800-891800	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr10:852800-894600	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr10:852800-895000	Strong transcription	Fetal Thymus	thymus
28	chr10:853000-876000	Strong transcription	HUVEC	blood vessel
29	chr10:853000-876400	Strong transcription	A549	lung
30	chr10:853000-876600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr10:853000-876600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr10:853000-877600	Strong transcription	NHEK	skin
33	chr10:856200-892800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr10:856600-876400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr10:857400-876800	Strong transcription	HepG2	liver
36	chr10:857800-876000	Strong transcription	NHLF	lung
37	chr10:857800-877200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr10:860400-876400	Strong transcription	K562	blood
39	chr10:863200-876400	Strong transcription	Fetal Muscle Trunk	muscle
40	chr10:864200-877200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr10:865400-875800	Strong transcription	HSMMtube	muscle
42	chr10:865400-890000	Weak transcription	Right Atrium	heart
43	chr10:865800-877600	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr10:866000-880000	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr10:866000-882000	Strong transcription	Fetal Muscle Leg	muscle
46	chr10:866200-874000	Strong transcription	Left Ventricle	heart
47	chr10:866200-875600	Strong transcription	Pancreas	Pancrea
48	chr10:866200-882200	Strong transcription	HSMM	muscle
49	chr10:866600-876200	Strong transcription	Gastric	stomach
50	chr10:867400-875600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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