Variant report

Variant	rs6428389
Chromosome Location	chr1:197141243-197141244
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10732295	0.82[AFR][1000 genomes]
rs10732296	0.92[AFR][1000 genomes]
rs10801593	0.89[AFR][1000 genomes]
rs10801594	0.85[AFR][1000 genomes]
rs6701681	0.93[AFR][1000 genomes]
rs7520503	0.86[AFR][1000 genomes]
rs7554890	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758990	chr1:196590837-197169772	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv427897	chr1:196590837-197169772	Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv2757767	chr1:196977799-197169772	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv873070	chr1:197079671-197165014	Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv873071	chr1:197079671-197187605	Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv873072	chr1:197079671-197221248	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv548871	chr1:197106604-197168233	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
9	nsv873073	chr1:197107074-197221248	Flanking Active TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197116400-197142200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:197116400-197142200	Weak transcription	HUVEC	blood vessel
3	chr1:197116400-197142400	Weak transcription	Colon Smooth Muscle	Colon
4	chr1:197116400-197142400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr1:197116400-197142600	Weak transcription	Fetal Brain Female	brain
6	chr1:197116400-197146200	Weak transcription	Gastric	stomach
7	chr1:197116400-197155000	Weak transcription	Fetal Brain Male	brain
8	chr1:197116600-197142600	Weak transcription	HMEC	breast
9	chr1:197116600-197169800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:197116800-197143200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr1:197117000-197142600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:197121600-197154800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:197123800-197143200	Weak transcription	Thymus	Thymus
14	chr1:197123800-197147600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr1:197124200-197143200	Weak transcription	Fetal Heart	heart
16	chr1:197124600-197142600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr1:197124600-197155400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:197124800-197144000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr1:197125000-197142400	Weak transcription	Fetal Kidney	kidney
20	chr1:197125200-197141600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr1:197125200-197142600	Weak transcription	Small Intestine	intestine
22	chr1:197125200-197142800	Weak transcription	NHEK	skin
23	chr1:197125200-197156000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr1:197125200-197156400	Weak transcription	Right Ventricle	heart
25	chr1:197125400-197155600	Weak transcription	Fetal Stomach	stomach
26	chr1:197125400-197156200	Weak transcription	Pancreas	Pancrea
27	chr1:197125400-197156400	Weak transcription	Aorta	Aorta
28	chr1:197125400-197156400	Weak transcription	Lung	lung
29	chr1:197125400-197168400	Weak transcription	Psoas Muscle	Psoas
30	chr1:197125600-197160000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:197125600-197169600	Weak transcription	Esophagus	oesophagus
32	chr1:197125800-197143000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr1:197125800-197158400	Weak transcription	Spleen	Spleen
34	chr1:197126000-197143000	Weak transcription	Brain Substantia Nigra	brain
35	chr1:197126400-197169600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:197127000-197148200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr1:197128200-197161000	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr1:197128400-197157000	Weak transcription	Colonic Mucosa	Colon
39	chr1:197128600-197142600	Weak transcription	Brain Germinal Matrix	brain
40	chr1:197128800-197142800	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr1:197129000-197142600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr1:197129000-197142600	Weak transcription	Brain Anterior Caudate	brain
43	chr1:197129000-197142600	Weak transcription	NHLF	lung
44	chr1:197129000-197142800	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr1:197129000-197142800	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr1:197129000-197143200	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr1:197129000-197155400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:197129200-197141800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr1:197129200-197142400	Weak transcription	Brain Hippocampus Middle	brain
50	chr1:197129200-197149200	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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