Variant report

Variant	rs836484
Chromosome Location	chr7:6426186-6426187
allele	A/C
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	JUND	chr7:6424709-6426247	SK-N-SH	brain:	n/a	chr7:6425182-6425190 chr7:6425178-6425189 chr7:6425182-6425191 chr7:6425180-6425191 chr7:6425183-6425190 chr7:6425181-6425191

No.	Distal block	Cell Line	Cell type
1	chr7:6421413..6423710-chr7:6424469..6426937,2	MCF-7	breast:
2	chr7:6425587..6427672-chr7:6434203..6435980,2	K562	blood:
3	chr7:6421014..6427961-chr7:6430347..6436546,11	K562	blood:
4	chr7:6425290..6426951-chr7:6443487..6445552,2	MCF-7	breast:
5	chr7:6424186..6426386-chr7:6428771..6430313,2	K562	blood:
6	chr7:6425039..6427961-chr7:6431283..6434070,6	K562	blood:
7	chr7:6408313..6409948-chr7:6425652..6428069,2	MCF-7	breast:
8	chr7:6423770..6428087-chr7:6429749..6432812,3	MCF-7	breast:

Variant related genes	Relation type
RAC1	TF binding region
ENSG00000136238	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10225406	1.00[EUR][1000 genomes]
rs2689422	0.92[ASN][1000 genomes]
rs836469	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs836475	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs836481	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs836485	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs836491	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs836495	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs836496	1.00[EUR][1000 genomes]
rs836501	1.00[EUR][1000 genomes]
rs836505	1.00[EUR][1000 genomes]
rs836515	1.00[EUR][1000 genomes]
rs836522	1.00[EUR][1000 genomes]
rs836553	1.00[EUR][1000 genomes]
rs836555	1.00[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	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
3	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
5	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
6	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
7	nsv1021037	chr7:6070792-6426966	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
8	nsv538713	chr7:6070792-6426966	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv530989	chr7:6176729-6438197	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv1020236	chr7:6248930-6690377	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
11	nsv497874	chr7:6296768-6614902	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
12	nsv605999	chr7:6396719-6472881	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv967451	chr7:6417630-6427589	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6415800-6427400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:6417000-6427400	Weak transcription	Thymus	Thymus
3	chr7:6417200-6426400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:6417200-6435400	Weak transcription	Fetal Brain Male	brain
5	chr7:6419000-6427000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr7:6419200-6426200	Enhancers	Adipose Nuclei	Adipose
7	chr7:6419400-6426400	Enhancers	Primary T cells fromperipheralblood	blood
8	chr7:6419600-6426200	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr7:6419600-6426600	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr7:6421200-6426200	Enhancers	Left Ventricle	heart
11	chr7:6421400-6427400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr7:6421800-6426400	Enhancers	Pancreas	Pancrea
13	chr7:6422600-6426200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr7:6422600-6427000	Enhancers	HMEC	breast
15	chr7:6423000-6432400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr7:6423200-6426800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:6423600-6426200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr7:6423600-6426400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:6423600-6426400	Enhancers	Psoas Muscle	Psoas
20	chr7:6423600-6426800	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr7:6423800-6426200	Enhancers	Brain Hippocampus Middle	brain
22	chr7:6423800-6426200	Enhancers	Duodenum Mucosa	Duodenum
23	chr7:6423800-6426200	Enhancers	HSMM	muscle
24	chr7:6423800-6426200	Genic enhancers	K562	blood
25	chr7:6423800-6427800	Enhancers	Placenta Amnion	Placenta Amnion
26	chr7:6424000-6426400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:6424000-6432400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:6424000-6432400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr7:6424200-6426200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr7:6424200-6426200	Enhancers	NHLF	lung
31	chr7:6424200-6426800	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr7:6424200-6426800	Weak transcription	Dnd41	blood
33	chr7:6424400-6426200	Enhancers	Fetal Thymus	thymus
34	chr7:6424600-6426200	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr7:6424600-6426200	Enhancers	HSMMtube	muscle
36	chr7:6424600-6431400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr7:6424800-6427000	Weak transcription	Fetal Muscle Trunk	muscle
38	chr7:6425000-6426200	Enhancers	H1 Cell Line	embryonic stem cell
39	chr7:6425200-6426200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr7:6425200-6426600	Enhancers	HUVEC	blood vessel
41	chr7:6425200-6427000	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr7:6425400-6432600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr7:6425600-6426200	Enhancers	Lung	lung
44	chr7:6425600-6426400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:6425600-6426400	Enhancers	NHDF-Ad	bronchial
46	chr7:6425600-6426600	Enhancers	Rectal Smooth Muscle	rectum
47	chr7:6425600-6426600	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr7:6425600-6426800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr7:6425600-6426800	Enhancers	Osteobl	bone
50	chr7:6425600-6427000	Enhancers	Cortex derived primary cultured neurospheres	brain

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