Variant report

Variant	rs6971514
Chromosome Location	chr7:127005975-127005976
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:126999623..127001403-chr7:127005210..127006767,2	MCF-7	breast:
2	chr7:127005088..127006820-chr7:127013263..127015171,2	MCF-7	breast:
3	chr7:126893732..126895403-chr7:127004899..127007535,2	K562	blood:

Variant related genes	Relation type
ENSG00000048405	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17862354	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17862363	1.00[CEU][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17862366	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17862377	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs17864188	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17864190	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17867832	0.94[YRI][hapmap]
rs17867833	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17867837	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17867838	1.00[CEU][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6954165	0.93[YRI][hapmap];0.87[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017145	chr7:126995304-127015459	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126987800-127020600	Weak transcription	Spleen	Spleen
2	chr7:126988400-127006400	Weak transcription	Psoas Muscle	Psoas
3	chr7:126988400-127012600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr7:126988400-127013000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr7:126988400-127013000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr7:126988400-127013200	Weak transcription	NHEK	skin
7	chr7:126988400-127013400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr7:126988400-127014000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr7:126988400-127030200	Weak transcription	Fetal Intestine Small	intestine
10	chr7:126988400-127031400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:126988400-127031400	Weak transcription	Colonic Mucosa	Colon
12	chr7:126988400-127031400	Weak transcription	Pancreas	Pancrea
13	chr7:126988600-127007000	Weak transcription	A549	lung
14	chr7:126988600-127013400	Weak transcription	Colon Smooth Muscle	Colon
15	chr7:126989000-127031000	Weak transcription	Fetal Brain Male	brain
16	chr7:126991600-127030400	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr7:126994000-127019800	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr7:126995200-127007800	Weak transcription	Brain Anterior Caudate	brain
19	chr7:126995400-127022600	Strong transcription	Dnd41	blood
20	chr7:126995600-127027600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr7:126996200-127013000	Weak transcription	Ovary	ovary
22	chr7:126996600-127006400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr7:126996800-127010600	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr7:126996800-127013400	Weak transcription	Fetal Kidney	kidney
25	chr7:126997000-127012800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr7:126997400-127006200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr7:126997400-127031200	Weak transcription	Brain Substantia Nigra	brain
28	chr7:126998200-127020600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr7:126998600-127010000	Strong transcription	Primary hematopoietic stem cells	blood
30	chr7:126998600-127013800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr7:126999200-127006800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:126999200-127013400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr7:126999200-127018000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:126999200-127027200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr7:126999400-127013000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr7:126999400-127031400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr7:126999600-127013400	Weak transcription	Fetal Brain Female	brain
38	chr7:126999600-127023200	Weak transcription	Small Intestine	intestine
39	chr7:126999800-127010000	Strong transcription	Fetal Thymus	thymus
40	chr7:126999800-127010200	Strong transcription	Primary T cells from cord blood	blood
41	chr7:127000200-127006400	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr7:127000200-127019600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr7:127000400-127013200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr7:127001400-127011400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr7:127001400-127013200	Weak transcription	Brain Hippocampus Middle	brain
46	chr7:127001600-127006200	Weak transcription	Fetal Muscle Leg	muscle
47	chr7:127001600-127009000	Weak transcription	Left Ventricle	heart
48	chr7:127001600-127009200	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr7:127001600-127011200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr7:127001600-127013000	Weak transcription	Fetal Muscle Trunk	muscle

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