Variant report

Variant	rs2058711
Chromosome Location	chr7:104647571-104647572
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:104646792..104648750-chr7:104757505..104760148,2	K562	blood:
2	chr17:59485726..59487410-chr7:104646089..104648934,2	MCF-7	breast:
3	chr7:104647386..104649426-chr7:104699731..104702282,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SRPK2-1	chr7:104647566-104648552	NONHSAT122593
2	lnc-SRPK2-1	chr7:104637584-104654636	NONHSAT122594

Variant related genes	Relation type
ENSG00000121068	Chromatin interaction
ENSG00000135250	Chromatin interaction

Extended variants
information (count: 112 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs1013016	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1019040	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10224526	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10231782	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10231975	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10241374	1.00[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10242713	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10244764	1.00[CEU][hapmap];0.84[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10245589	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10245676	1.00[CEU][hapmap];0.84[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10245796	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10249746	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10249965	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10253962	0.84[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs10260346	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10261472	0.91[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10261573	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10264273	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10268866	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10269027	1.00[CEU][hapmap];0.89[JPT][hapmap]
rs10274607	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10276583	1.00[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10279486	0.84[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10279602	0.92[EUR][1000 genomes]
rs10280009	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10280470	1.00[CEU][hapmap];0.89[JPT][hapmap]
rs10280752	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10808139	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10808140	1.00[CEU][hapmap];0.89[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10953464	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10953466	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10953467	0.91[EUR][1000 genomes]
rs1143	0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs11971732	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11973516	0.92[CEU][hapmap];0.84[JPT][hapmap];0.90[AMR][1000 genomes]
rs11976329	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11981399	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12171585	0.84[EUR][1000 genomes]
rs12531424	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12532062	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12532456	0.92[EUR][1000 genomes]
rs12534140	1.00[CEU][hapmap];0.84[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12540007	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12667625	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12671368	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12705297	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12705299	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13230660	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13237370	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs1859786	0.84[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs1978201	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2011258	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2214928	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2216107	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2237602	0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2237604	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2237605	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2237606	0.84[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2237610	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs2240453	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2240454	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2240455	0.92[CEU][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2240457	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2240465	0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs2285532	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2299297	0.89[JPT][hapmap]
rs2299299	0.84[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2385542	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs28434158	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28489493	0.92[EUR][1000 genomes]
rs2891761	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3173872	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3213676	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3213741	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34202980	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34558707	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35780942	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3735377	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3815256	0.90[CHB][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes]
rs4730065	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4730067	1.00[CEU][hapmap];0.89[JPT][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4730068	1.00[CEU][hapmap];0.84[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4730069	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4730071	1.00[CEU][hapmap];0.84[JPT][hapmap]
rs6466045	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs67739707	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6952534	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6971241	0.84[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs6972229	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs71562633	0.85[EUR][1000 genomes]
rs740297	0.89[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs740298	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs740300	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7780887	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs7785197	1.00[CEU][hapmap];0.84[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7800233	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7805792	0.84[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7808168	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs7810119	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7811349	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs875567	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs875568	0.92[CEU][hapmap];0.84[JPT][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs916704	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs960437	0.92[CEU][hapmap];0.84[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9641340	0.90[CEU][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9641341	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs999895	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029283	chr7:104571741-104729168	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	132 gene(s)	inside rSNPs	diseases
2	nsv888927	chr7:104614664-104781644	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
3	esv2829879	chr7:104618318-104652671	Transcr. at gene 5' and 3' Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv608068	chr7:104622402-104757483	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
5	nsv437561	chr7:104626690-104647571	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104633600-104650400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr7:104636400-104649400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr7:104639400-104649800	Genic enhancers	Fetal Intestine Small	intestine
4	chr7:104639800-104648800	Enhancers	Colon Smooth Muscle	Colon
5	chr7:104640200-104648600	Genic enhancers	Dnd41	blood
6	chr7:104641800-104649000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr7:104641800-104651800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:104642000-104650200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr7:104642000-104650600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:104642200-104650000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr7:104642400-104651000	Weak transcription	Esophagus	oesophagus
12	chr7:104642400-104652200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:104643400-104648200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:104643600-104650800	Genic enhancers	Primary B cells from peripheral blood	blood
15	chr7:104644000-104649400	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr7:104644400-104648600	Weak transcription	Aorta	Aorta
17	chr7:104644400-104649000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr7:104644600-104647800	Weak transcription	Gastric	stomach
19	chr7:104644600-104648600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:104644600-104649200	Genic enhancers	NHEK	skin
21	chr7:104644600-104650200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr7:104644800-104647600	Enhancers	Primary T cells from cord blood	blood
23	chr7:104644800-104650200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr7:104644800-104650400	Weak transcription	HSMMtube	muscle
25	chr7:104645000-104647600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:104645000-104647800	Weak transcription	Colonic Mucosa	Colon
27	chr7:104645000-104648600	Weak transcription	NH-A	brain
28	chr7:104645000-104648800	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr7:104645000-104649200	Weak transcription	Fetal Brain Female	brain
30	chr7:104645200-104647600	Weak transcription	Fetal Muscle Leg	muscle
31	chr7:104645200-104648200	Strong transcription	Fetal Stomach	stomach
32	chr7:104645200-104648600	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr7:104645200-104650200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr7:104645400-104647600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:104645400-104647600	Weak transcription	Hela-S3	cervix
36	chr7:104645400-104649400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr7:104645800-104649400	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr7:104646000-104647800	Enhancers	Fetal Intestine Large	intestine
39	chr7:104646000-104648200	Enhancers	Placenta	Placenta
40	chr7:104646200-104649000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr7:104646400-104648600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr7:104646400-104650000	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr7:104646400-104651000	Weak transcription	Lung	lung
44	chr7:104646600-104647600	Strong transcription	A549	lung
45	chr7:104646600-104647800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr7:104646600-104647800	Strong transcription	HSMM	muscle
47	chr7:104646600-104648200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr7:104646600-104648200	Weak transcription	Spleen	Spleen
49	chr7:104646600-104648800	Genic enhancers	HUVEC	blood vessel
50	chr7:104646600-104649200	Genic enhancers	K562	blood

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