Variant report

Variant	rs72995085
Chromosome Location	chr6:143193971-143193972
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:143192752..143194574-chr6:143196705..143198471,2	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11155265	0.86[EUR][1000 genomes]
rs11969311	0.95[EUR][1000 genomes]
rs12190804	0.88[EUR][1000 genomes]
rs12192692	0.88[EUR][1000 genomes]
rs12194338	0.82[EUR][1000 genomes]
rs12194808	0.88[EUR][1000 genomes]
rs12196693	0.88[EUR][1000 genomes]
rs12199711	0.88[EUR][1000 genomes]
rs12201734	0.88[EUR][1000 genomes]
rs12201987	0.88[EUR][1000 genomes]
rs12203708	0.88[EUR][1000 genomes]
rs12205948	0.88[EUR][1000 genomes]
rs12206012	0.88[EUR][1000 genomes]
rs12208876	0.95[EUR][1000 genomes]
rs12210048	0.85[EUR][1000 genomes]
rs12210301	0.82[EUR][1000 genomes]
rs12214573	0.92[EUR][1000 genomes]
rs17444447	0.88[EUR][1000 genomes]
rs2142938	0.88[EUR][1000 genomes]
rs2876528	0.88[EUR][1000 genomes]
rs28846218	1.00[ASN][1000 genomes]
rs4349826	0.82[EUR][1000 genomes]
rs4492208	0.87[EUR][1000 genomes]
rs62430690	1.00[ASN][1000 genomes]
rs62430703	1.00[ASN][1000 genomes]
rs62430707	0.80[EUR][1000 genomes]
rs62430709	0.88[EUR][1000 genomes]
rs62430712	0.88[EUR][1000 genomes]
rs62430713	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62432360	0.95[EUR][1000 genomes]
rs62432362	0.95[EUR][1000 genomes]
rs6900521	1.00[ASN][1000 genomes]
rs6905453	0.80[EUR][1000 genomes]
rs6910072	0.82[EUR][1000 genomes]
rs6925118	0.80[EUR][1000 genomes]
rs6927858	0.82[EUR][1000 genomes]
rs728589	0.88[EUR][1000 genomes]
rs72984377	1.00[ASN][1000 genomes]
rs72990282	0.82[EUR][1000 genomes]
rs802618	1.00[ASN][1000 genomes]
rs9496514	1.00[ASN][1000 genomes]
rs972119	0.88[EUR][1000 genomes]
rs998313	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830829	chr6:143058408-143218077	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv538459	chr6:143165802-143360098	Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143179600-143195000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:143179600-143195800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:143185600-143195000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr6:143185600-143195000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr6:143185600-143195000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:143185800-143195800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr6:143187000-143195800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr6:143187200-143194200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr6:143188000-143195200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr6:143188600-143206200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:143189400-143197400	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr6:143189400-143198000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr6:143189400-143201400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr6:143189400-143205400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr6:143189400-143205800	Weak transcription	Fetal Stomach	stomach
16	chr6:143189600-143198400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr6:143189600-143204200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr6:143191200-143194400	Enhancers	Right Ventricle	heart
19	chr6:143191200-143196200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr6:143191200-143198800	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr6:143191200-143205600	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr6:143191400-143194400	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr6:143191600-143195800	Weak transcription	Placenta	Placenta
24	chr6:143191600-143199600	Weak transcription	Fetal Muscle Leg	muscle
25	chr6:143191800-143194200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr6:143191800-143197800	Enhancers	Primary T cells from cord blood	blood
27	chr6:143192000-143194000	Enhancers	NHEK	skin
28	chr6:143192000-143194200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr6:143192000-143194200	Enhancers	HepG2	liver
30	chr6:143192000-143194600	Enhancers	HMEC	breast
31	chr6:143192000-143195800	Weak transcription	Psoas Muscle	Psoas
32	chr6:143192200-143194000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr6:143192200-143194000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr6:143192200-143194200	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr6:143192200-143194200	Enhancers	NH-A	brain
36	chr6:143192200-143196400	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr6:143192400-143194000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr6:143192400-143194000	Enhancers	NHDF-Ad	bronchial
39	chr6:143192400-143194200	Enhancers	Adipose Nuclei	Adipose
40	chr6:143192400-143194600	Enhancers	Fetal Intestine Small	intestine
41	chr6:143192400-143196000	Enhancers	Primary B cells from cord blood	blood
42	chr6:143192400-143196400	Enhancers	Primary B cells from peripheral blood	blood
43	chr6:143192800-143194000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr6:143192800-143194000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr6:143192800-143194200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
46	chr6:143192800-143194200	Enhancers	Stomach Mucosa	stomach
47	chr6:143192800-143194400	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr6:143192800-143196800	Enhancers	Primary T cells fromperipheralblood	blood
49	chr6:143192800-143196800	Enhancers	Fetal Heart	heart
50	chr6:143193000-143194000	Flanking Active TSS	Brain Angular Gyrus	brain

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