Variant report

Variant	rs6954996
Chromosome Location	chr7:6441258-6441259
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:43124082..43125028-chr7:6440861..6441591,2	NB4	blood:
2	chr7:6439968..6442839-chr7:6456172..6458248,2	MCF-7	breast:
3	chr7:6412517..6417079-chr7:6439604..6446019,8	MCF-7	breast:
4	chr7:6386514..6388780-chr7:6439968..6442713,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171960	Chromatin interaction
ENSG00000178397	Chromatin interaction
ENSG00000136238	Chromatin interaction
ENSG00000164535	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10234438	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10238136	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10270289	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10270779	0.85[ASN][1000 genomes]
rs12977	1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2347338	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28421827	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34326300	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34353637	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34418095	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs34444443	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs34521445	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34593300	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34610704	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34638150	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35109494	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs35130552	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35149708	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35156887	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs35551995	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35981225	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3813517	1.00[CHB][hapmap]
rs68158432	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6950333	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6967221	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
8	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
9	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
10	esv1824738	chr7:6431933-6554222	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	esv1825865	chr7:6431933-6554222	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6426000-6456400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:6426000-6475600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:6426400-6457400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:6436000-6444800	Weak transcription	Fetal Brain Male	brain
5	chr7:6436200-6448200	Weak transcription	Small Intestine	intestine
6	chr7:6437200-6449000	Strong transcription	Fetal Stomach	stomach
7	chr7:6437400-6457400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:6437400-6457400	Strong transcription	Dnd41	blood
9	chr7:6437600-6444000	Strong transcription	K562	blood
10	chr7:6437600-6470400	Strong transcription	Fetal Brain Female	brain
11	chr7:6437800-6441400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:6437800-6441400	Genic enhancers	Lung	lung
13	chr7:6437800-6450200	Strong transcription	Thymus	Thymus
14	chr7:6437800-6456400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr7:6437800-6457200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr7:6437800-6457400	Strong transcription	Primary B cells from peripheral blood	blood
17	chr7:6438000-6457400	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr7:6438000-6458000	Strong transcription	Osteobl	bone
19	chr7:6438000-6462400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr7:6438200-6445200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr7:6438200-6450600	Strong transcription	Colonic Mucosa	Colon
22	chr7:6438600-6444400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr7:6438600-6457200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr7:6438600-6457400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr7:6438600-6475600	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr7:6438800-6457400	Strong transcription	Primary T cells from cord blood	blood
27	chr7:6438800-6457600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:6438800-6462800	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr7:6439000-6441400	Weak transcription	Brain Substantia Nigra	brain
30	chr7:6439000-6456400	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr7:6439200-6441400	Genic enhancers	Brain Hippocampus Middle	brain
32	chr7:6439200-6456000	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr7:6439200-6456800	Strong transcription	NHDF-Ad	bronchial
34	chr7:6439200-6457200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
35	chr7:6439200-6457400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr7:6439400-6441400	Weak transcription	Primary B cells from cord blood	blood
37	chr7:6439400-6448800	Strong transcription	Fetal Intestine Large	intestine
38	chr7:6439400-6454200	Strong transcription	Spleen	Spleen
39	chr7:6439400-6457200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:6439400-6457400	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr7:6439400-6457400	Strong transcription	Fetal Muscle Trunk	muscle
42	chr7:6439400-6458000	Strong transcription	Fetal Muscle Leg	muscle
43	chr7:6439600-6441400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
44	chr7:6439600-6447200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr7:6439600-6449400	Weak transcription	Psoas Muscle	Psoas
46	chr7:6439600-6456000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:6439600-6456600	Strong transcription	HUVEC	blood vessel
48	chr7:6439600-6456800	Strong transcription	Aorta	Aorta
49	chr7:6439600-6457000	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr7:6439600-6457000	Strong transcription	Sigmoid Colon	Sigmoid Colon

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