Variant report

Variant	rs6972144
Chromosome Location	chr7:137558569-137558570
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:137555025..137557562-chr7:137558269..137560662,2	MCF-7	breast:
2	chr7:137554665..137556527-chr7:137556593..137558804,2	K562	blood:
3	chr7:137550548..137553249-chr7:137557181..137559857,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10223970	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10229562	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10229720	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10241560	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10267096	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10275839	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28421417	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3735018	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3800632	1.00[EUR][1000 genomes]
rs55868765	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55960820	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57402658	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57979055	1.00[ASN][1000 genomes]
rs61280276	1.00[EUR][1000 genomes]
rs73460673	1.00[EUR][1000 genomes]
rs73729083	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73729085	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73729087	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73729089	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022793	chr7:137187383-137619359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv831150	chr7:137500559-137652808	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS 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
3	nsv518070	chr7:137534627-137808839	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137533800-137575400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:137534200-137563000	Weak transcription	HMEC	breast
3	chr7:137535200-137562600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr7:137537400-137559000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr7:137543400-137566800	Strong transcription	Placenta	Placenta
6	chr7:137545000-137564200	Weak transcription	Small Intestine	intestine
7	chr7:137546200-137560000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr7:137546400-137558600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:137546400-137562600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:137546400-137564000	Weak transcription	Brain Angular Gyrus	brain
11	chr7:137547200-137562200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:137547400-137561400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:137547800-137567200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr7:137548000-137562000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr7:137548200-137558600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr7:137548400-137563200	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr7:137549200-137560000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr7:137550200-137559200	Weak transcription	Fetal Kidney	kidney
19	chr7:137550200-137564400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr7:137550400-137559200	Weak transcription	HUVEC	blood vessel
21	chr7:137550600-137563400	Weak transcription	Brain Substantia Nigra	brain
22	chr7:137550800-137561200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr7:137550800-137562600	Weak transcription	Brain Anterior Caudate	brain
24	chr7:137551200-137569400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr7:137551400-137562600	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr7:137551600-137560400	Weak transcription	K562	blood
27	chr7:137551600-137561400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:137551600-137562800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr7:137552400-137558800	Weak transcription	Fetal Lung	lung
30	chr7:137552600-137558600	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr7:137552600-137559400	Weak transcription	HepG2	liver
32	chr7:137552800-137561400	Weak transcription	NHEK	skin
33	chr7:137553000-137558600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr7:137553000-137560000	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr7:137553000-137562600	Weak transcription	Primary T cells from cord blood	blood
36	chr7:137553000-137563200	Weak transcription	Colonic Mucosa	Colon
37	chr7:137555400-137561400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
38	chr7:137555600-137563800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr7:137555600-137583200	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr7:137556000-137558600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr7:137556000-137558600	Strong transcription	Fetal Stomach	stomach
42	chr7:137556000-137559200	Strong transcription	Pancreas	Pancrea
43	chr7:137556000-137559200	Strong transcription	Stomach Smooth Muscle	stomach
44	chr7:137556000-137559400	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr7:137556000-137561400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr7:137556000-137561800	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr7:137556000-137562000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:137556000-137563200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr7:137556000-137566800	Strong transcription	GM12878-XiMat	blood
50	chr7:137556000-137570800	Strong transcription	Rectal Mucosa Donor 31	rectum

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