Variant report

Variant	rs7617626
Chromosome Location	chr3:196091317-196091318
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:196090944..196093286-chr3:196094275..196096504,2	K562	blood:
2	chr3:196054797..196056651-chr3:196089177..196091738,2	K562	blood:
3	chr3:196091299..196094220-chr3:196098056..196100993,2	K562	blood:
4	chr3:196090966..196093753-chr3:196102999..196105784,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11712853	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12488531	0.81[AFR][1000 genomes]
rs13089205	0.83[AFR][1000 genomes]
rs28594421	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs34702811	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4290832	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4371545	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4513483	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4916428	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6774540	1.00[CEU][hapmap];0.87[YRI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6805994	0.86[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs7373049	1.00[CEU][hapmap];0.83[CHB][hapmap];0.97[YRI][hapmap];0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7373103	1.00[CEU][hapmap];0.91[CHB][hapmap];0.80[YRI][hapmap]
rs7373385	0.81[EUR][1000 genomes]
rs7374841	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7639524	1.00[JPT][hapmap]
rs9821735	0.82[EUR][1000 genomes]
rs9841810	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs9847223	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs9848247	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9860931	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9874783	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997797	chr3:195658360-196212958	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv1009811	chr3:195851796-196138071	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
3	nsv1003550	chr3:195885340-196159824	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
4	nsv536893	chr3:195885340-196159824	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
5	nsv1003194	chr3:195960270-196342423	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	nsv536894	chr3:195960270-196342423	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
7	nsv878182	chr3:195974181-196228360	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
8	nsv1003764	chr3:196028141-196190687	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
9	nsv536895	chr3:196028141-196190687	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
10	esv1844755	chr3:196057616-196190350	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	nsv469831	chr3:196071603-196235225	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
12	nsv482542	chr3:196071603-196235225	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
13	nsv878183	chr3:196072442-196181228	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196070600-196106400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:196071800-196100800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr3:196072400-196099600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr3:196073600-196135800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr3:196074200-196099000	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr3:196074800-196099000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr3:196077000-196100400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:196077800-196093200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr3:196077800-196095200	Strong transcription	Fetal Muscle Trunk	muscle
10	chr3:196078800-196095000	Strong transcription	Fetal Muscle Leg	muscle
11	chr3:196079800-196091400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr3:196079800-196096800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr3:196079800-196099000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr3:196080000-196091400	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr3:196080000-196093400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:196080600-196095000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr3:196080600-196100800	Strong transcription	Dnd41	blood
18	chr3:196080800-196092600	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr3:196081000-196091600	Strong transcription	GM12878-XiMat	blood
20	chr3:196081000-196094600	Strong transcription	HepG2	liver
21	chr3:196081200-196099200	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr3:196082000-196099200	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr3:196083600-196143800	Weak transcription	Psoas Muscle	Psoas
24	chr3:196083800-196092800	Weak transcription	Fetal Heart	heart
25	chr3:196083800-196094200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr3:196083800-196106400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr3:196084200-196100000	Strong transcription	Fetal Intestine Small	intestine
28	chr3:196084600-196131600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr3:196085000-196093400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr3:196085200-196102200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr3:196085600-196091400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr3:196086200-196099200	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr3:196086400-196094200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr3:196086400-196116000	Weak transcription	A549	lung
35	chr3:196087400-196095000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr3:196087400-196099000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr3:196088200-196095000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr3:196088400-196116600	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr3:196088800-196094400	Weak transcription	NHDF-Ad	bronchial
40	chr3:196089000-196094000	Weak transcription	NH-A	brain
41	chr3:196089000-196106600	Weak transcription	Right Ventricle	heart
42	chr3:196089400-196093000	Weak transcription	Fetal Brain Female	brain
43	chr3:196089400-196093400	Weak transcription	Colonic Mucosa	Colon
44	chr3:196089400-196107000	Weak transcription	Aorta	Aorta
45	chr3:196089400-196116400	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr3:196089600-196092400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr3:196089600-196092400	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr3:196089600-196093000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr3:196089600-196093000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr3:196089600-196093200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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