Variant report

Variant	rs1051995
Chromosome Location	chr19:35770292-35770293
allele	C/T
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	chr19:35769553-35772534	K562	blood:	n/a	n/a
2	POLR2A	chr19:35770250-35770647	H1-neurons	neurons:	n/a	n/a
3	POLR2A	chr19:35770291-35770538	GM12878	blood:	n/a	n/a
4	POLR2A	chr19:35770271-35770516	K562	blood:	n/a	n/a
5	POLR2A	chr19:35769455-35772473	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr19:35770198-35772220	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr19:35770288-35770598	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:35758290..35762202-chr19:35770035..35773582,5	K562	blood:
2	chr19:35769830..35774693-chr19:35781606..35784141,6	K562	blood:
3	chr19:35768943..35770953-chr19:35842158..35843798,2	K562	blood:

Variant related genes	Relation type
HAMP	TF binding region
ENSG00000126266	Chromatin interaction
ENSG00000105695	Chromatin interaction
ENSG00000105698	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10405246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10410675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10414846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10419261	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10419959	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10421096	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10421504	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10421599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10421768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10424619	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1052033	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12973672	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12974791	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12975284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12979058	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12979792	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12981527	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12984022	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12985618	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12986033	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13345192	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2073899	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2280744	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2280745	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2280747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28365133	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28365136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34832786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35250673	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35497966	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35959789	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62109572	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62112772	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71352913	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7256866	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8101606	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers 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 miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv510765	chr19:35708226-35890668	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	esv2758497	chr19:35711078-35887113	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
6	esv2758758	chr19:35711078-35887113	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	nsv911618	chr19:35734107-35807845	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
8	esv1836312	chr19:35741456-35786868	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	n/a
9	nsv911619	chr19:35749563-35775441	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	n/a
10	nsv911620	chr19:35752917-35771382	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	n/a
11	nsv911621	chr19:35752917-35772471	Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	n/a
12	nsv911622	chr19:35752917-35773146	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	n/a
13	nsv911623	chr19:35752917-35775441	Flanking Active TSS Genic enhancers Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	n/a
14	nsv911624	chr19:35759043-35771382	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35761000-35770400	Weak transcription	HSMM	muscle
2	chr19:35761200-35770400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr19:35761200-35770400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr19:35761200-35770600	Strong transcription	Sigmoid Colon	Sigmoid Colon
5	chr19:35761200-35772200	Weak transcription	Psoas Muscle	Psoas
6	chr19:35761400-35770400	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr19:35761400-35770400	Strong transcription	Rectal Smooth Muscle	rectum
8	chr19:35761400-35770600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr19:35761400-35770800	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr19:35761400-35770800	Strong transcription	Fetal Thymus	thymus
11	chr19:35761400-35771000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr19:35761400-35771000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr19:35761400-35771000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr19:35761400-35771000	Strong transcription	Brain Germinal Matrix	brain
15	chr19:35761400-35771200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr19:35761400-35772000	Strong transcription	Fetal Stomach	stomach
17	chr19:35761400-35775600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr19:35761600-35770400	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr19:35761600-35770600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr19:35761600-35770600	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr19:35761600-35771000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr19:35761600-35771000	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr19:35761600-35771000	Strong transcription	Fetal Intestine Large	intestine
24	chr19:35761600-35771000	Strong transcription	Thymus	Thymus
25	chr19:35761600-35771200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr19:35761600-35771400	Strong transcription	Fetal Intestine Small	intestine
27	chr19:35761600-35771400	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr19:35761800-35770600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr19:35761800-35770800	Strong transcription	Fetal Muscle Trunk	muscle
30	chr19:35761800-35771000	Strong transcription	Fetal Brain Female	brain
31	chr19:35762000-35770600	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr19:35762200-35771200	Strong transcription	Right Ventricle	heart
33	chr19:35762400-35772000	Weak transcription	K562	blood
34	chr19:35762800-35772000	Weak transcription	Stomach Mucosa	stomach
35	chr19:35762800-35780000	Weak transcription	Hela-S3	cervix
36	chr19:35763200-35770800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr19:35763200-35771800	Strong transcription	Fetal Muscle Leg	muscle
38	chr19:35763400-35770600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr19:35763400-35770600	Strong transcription	Gastric	stomach
40	chr19:35763400-35771400	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr19:35763400-35771400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr19:35763600-35771600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr19:35763600-35772800	Weak transcription	HSMMtube	muscle
44	chr19:35763600-35773400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr19:35763800-35770400	Strong transcription	Spleen	Spleen
46	chr19:35764400-35770400	Strong transcription	Primary B cells from peripheral blood	blood
47	chr19:35764400-35770800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr19:35764400-35770800	Strong transcription	Adipose Nuclei	Adipose
49	chr19:35764400-35771400	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr19:35764400-35771400	Weak transcription	NHDF-Ad	bronchial

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