Variant report

Variant	rs1850961
Chromosome Location	chr3:191073498-191073499
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:191071589..191073614-chr3:191084774..191087547,2	K562	blood:
2	chr3:191059352..191066044-chr3:191070268..191075568,9	K562	blood:
3	chr3:191072104..191073931-chr3:191077551..191079300,2	K562	blood:
4	chr3:191060607..191064094-chr3:191071227..191073545,3	K562	blood:

Variant related genes	Relation type
ENSG00000152492	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs1066857	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13061649	0.88[ASN][1000 genomes]
rs150505	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1520200	0.86[ASN][1000 genomes]
rs1656143	0.88[ASN][1000 genomes]
rs1662184	0.89[ASN][1000 genomes]
rs167148	0.89[ASN][1000 genomes]
rs1715641	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs176821	0.89[ASN][1000 genomes]
rs176822	0.86[ASN][1000 genomes]
rs184140	0.89[ASN][1000 genomes]
rs186064	0.88[ASN][1000 genomes]
rs186065	0.89[ASN][1000 genomes]
rs186068	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs211043	0.89[ASN][1000 genomes]
rs2572064	0.88[ASN][1000 genomes]
rs293807	0.89[ASN][1000 genomes]
rs293809	0.89[ASN][1000 genomes]
rs293810	0.89[ASN][1000 genomes]
rs293811	0.89[ASN][1000 genomes]
rs293812	0.89[ASN][1000 genomes]
rs293813	0.89[ASN][1000 genomes]
rs293814	0.89[ASN][1000 genomes]
rs293816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs293817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs293837	0.88[ASN][1000 genomes]
rs293839	0.88[ASN][1000 genomes]
rs293840	0.88[ASN][1000 genomes]
rs293841	0.88[ASN][1000 genomes]
rs293852	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs293854	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs293856	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs293857	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs293858	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs293859	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs293861	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs364519	0.89[ASN][1000 genomes]
rs383529	0.89[ASN][1000 genomes]
rs386241	0.88[ASN][1000 genomes]
rs389765	0.89[ASN][1000 genomes]
rs392311	0.88[ASN][1000 genomes]
rs399575	0.88[ASN][1000 genomes]
rs403078	0.89[ASN][1000 genomes]
rs407226	0.89[ASN][1000 genomes]
rs415149	0.89[ASN][1000 genomes]
rs420266	0.88[ASN][1000 genomes]
rs423989	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs429374	0.89[ASN][1000 genomes]
rs429521	0.88[ASN][1000 genomes]
rs436393	0.88[ASN][1000 genomes]
rs436428	0.88[ASN][1000 genomes]
rs438589	0.88[ASN][1000 genomes]
rs440266	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs441509	0.89[ASN][1000 genomes]
rs445914	0.88[ASN][1000 genomes]
rs447931	0.88[ASN][1000 genomes]
rs449398	0.89[ASN][1000 genomes]
rs491252	0.88[ASN][1000 genomes]
rs497918	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs513632	0.88[ASN][1000 genomes]
rs520494	0.88[ASN][1000 genomes]
rs520600	0.87[ASN][1000 genomes]
rs568702	0.85[ASN][1000 genomes]
rs578401	0.89[ASN][1000 genomes]
rs695910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs696347	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs696348	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs696349	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs697913	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428100	chr3:190793797-191092633	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv931943	chr3:190860224-191321873	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv2757910	chr3:190867011-191279107	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv2759209	chr3:190867011-191279107	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv428428	chr3:190936834-191215596	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv998208	chr3:191021434-191175350	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv1851611	chr3:191028147-191073560	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv534269	chr3:191037181-191261730	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv516440	chr3:191061214-191073706	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv508266	chr3:191064212-191083637	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	esv1808657	chr3:191064330-191081793	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv878106	chr3:191064528-191081344	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv435761	chr3:191064550-191073833	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	esv1823184	chr3:191064803-191082303	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	esv1848120	chr3:191064803-191082303	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	nsv592835	chr3:191065392-191073706	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv592840	chr3:191065516-191073706	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	esv1839532	chr3:191065921-191074873	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	nsv878107	chr3:191069984-191100073	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
20	nsv592852	chr3:191073228-191093310	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
21	nsv592853	chr3:191073228-191094985	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191050200-191074800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:191060600-191074800	Weak transcription	Primary B cells from cord blood	blood
3	chr3:191062000-191075600	Weak transcription	K562	blood
4	chr3:191062200-191075400	Weak transcription	Fetal Brain Female	brain
5	chr3:191063000-191076600	Weak transcription	Brain Substantia Nigra	brain
6	chr3:191068600-191073800	Weak transcription	NHLF	lung
7	chr3:191068600-191074600	Weak transcription	Fetal Stomach	stomach
8	chr3:191068600-191075000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:191068600-191075000	Weak transcription	Aorta	Aorta
10	chr3:191068600-191076600	Weak transcription	Fetal Kidney	kidney
11	chr3:191068800-191073600	Weak transcription	HSMM	muscle
12	chr3:191068800-191075400	Enhancers	Colon Smooth Muscle	Colon
13	chr3:191068800-191078800	Weak transcription	Fetal Brain Male	brain
14	chr3:191069400-191074200	Enhancers	HUVEC	blood vessel
15	chr3:191069400-191075000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr3:191069800-191096000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr3:191070800-191073800	Enhancers	Primary B cells from peripheral blood	blood
18	chr3:191071000-191074800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr3:191071000-191076000	Weak transcription	Primary T cells from cord blood	blood
20	chr3:191071000-191088400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr3:191071200-191073800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr3:191071200-191074000	Weak transcription	Fetal Muscle Leg	muscle
23	chr3:191071200-191076800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr3:191071200-191078800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr3:191071200-191078800	Weak transcription	Lung	lung
26	chr3:191071200-191114000	Weak transcription	Colonic Mucosa	Colon
27	chr3:191071400-191073600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr3:191071400-191073600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:191071400-191073600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr3:191071400-191073600	Enhancers	Fetal Heart	heart
31	chr3:191071400-191073800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr3:191071400-191074000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr3:191071400-191074200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr3:191071400-191074200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr3:191071400-191074200	Weak transcription	Right Atrium	heart
36	chr3:191071400-191074400	Weak transcription	Stomach Mucosa	stomach
37	chr3:191071400-191074800	Weak transcription	Duodenum Mucosa	Duodenum
38	chr3:191071400-191075000	Weak transcription	Fetal Lung	lung
39	chr3:191071400-191075800	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr3:191071400-191078400	Weak transcription	Fetal Intestine Small	intestine
41	chr3:191071400-191078800	Weak transcription	Gastric	stomach
42	chr3:191071400-191078800	Weak transcription	Pancreas	Pancrea
43	chr3:191071400-191078800	Weak transcription	Spleen	Spleen
44	chr3:191071400-191094200	Weak transcription	Small Intestine	intestine
45	chr3:191071400-191097400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr3:191071400-191100000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr3:191071600-191074400	Weak transcription	A549	lung
48	chr3:191071800-191074400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr3:191071800-191074400	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr3:191071800-191075000	Enhancers	Liver	Liver

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