Variant report

Variant	rs6954621
Chromosome Location	chr7:26731807-26731808
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:26730354..26732072-chr7:26734389..26737232,2	MCF-7	breast:

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10085562	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs10226612	0.92[EUR][1000 genomes]
rs10227575	0.83[EUR][1000 genomes]
rs10231080	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10235680	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs10238067	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10244462	1.00[CEU][hapmap]
rs10246300	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs10246483	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10246578	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10247117	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10248232	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10249383	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs10250097	1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs10250304	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs10250321	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10251817	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10252268	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs10254460	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10254467	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10257057	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs10261927	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs10262212	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs10262527	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs10262797	0.85[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs10265607	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs10271306	1.00[JPT][hapmap]
rs10271393	1.00[CEU][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10277060	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs10280403	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1030647	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs10486473	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10486474	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10486480	0.85[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs10486481	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs12155150	0.90[EUR][1000 genomes]
rs12333409	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12333690	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12334154	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1548482	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs17154428	1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17154538	0.85[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17310268	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17310851	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17310907	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs17313134	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17323962	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs17370293	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17371905	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2195902	0.91[EUR][1000 genomes]
rs28414527	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28465643	0.83[EUR][1000 genomes]
rs28645143	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28781274	0.83[EUR][1000 genomes]
rs34616067	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3735547	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3801835	1.00[JPT][hapmap]
rs4141345	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4141346	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61636979	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67719086	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6950668	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6961653	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6961904	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73073794	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73079514	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7779269	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7781784	1.00[CEU][hapmap];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7782851	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7783807	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7784380	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7786308	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7786456	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7806174	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9648328	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9648329	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9648332	0.92[EUR][1000 genomes]
rs9648333	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029596	chr7:26302739-26737913	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538804	chr7:26302739-26737913	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1025538	chr7:26482342-27376045	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
4	nsv538805	chr7:26482342-27376045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
5	nsv830929	chr7:26587888-26749735	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1020378	chr7:26679880-26733872	Bivalent Enhancer Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv5672	chr7:26711462-26757891	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26705000-26759600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr7:26724400-26742000	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr7:26725600-26732200	Enhancers	Primary hematopoietic stem cells	blood
4	chr7:26725600-26732400	Enhancers	HUVEC	blood vessel
5	chr7:26726600-26734200	Weak transcription	NHDF-Ad	bronchial
6	chr7:26727200-26735600	Weak transcription	Esophagus	oesophagus
7	chr7:26727200-26739200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:26728600-26734600	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr7:26729000-26756400	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr7:26729200-26747000	Weak transcription	Primary B cells from cord blood	blood
11	chr7:26729200-26747000	Weak transcription	Primary B cells from peripheral blood	blood
12	chr7:26729400-26732600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:26729400-26737000	Weak transcription	Psoas Muscle	Psoas
14	chr7:26729600-26732800	Weak transcription	GM12878-XiMat	blood
15	chr7:26729600-26738800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr7:26729600-26750000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr7:26729800-26738000	Weak transcription	A549	lung
18	chr7:26730000-26743800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr7:26730000-26747000	Weak transcription	Fetal Kidney	kidney
20	chr7:26730400-26735200	Weak transcription	NHLF	lung
21	chr7:26730400-26739400	Weak transcription	Adipose Nuclei	Adipose
22	chr7:26730400-26739800	Weak transcription	Fetal Intestine Small	intestine
23	chr7:26730400-26740200	Weak transcription	Fetal Intestine Large	intestine
24	chr7:26730600-26735400	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr7:26730600-26739800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:26731000-26732400	Enhancers	HMEC	breast
27	chr7:26731200-26732000	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr7:26731200-26732000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:26731200-26732200	Enhancers	Fetal Muscle Leg	muscle
30	chr7:26731200-26732400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr7:26731200-26732600	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr7:26731200-26732800	Enhancers	NHEK	skin
33	chr7:26731400-26732000	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr7:26731400-26732000	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr7:26731400-26732200	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr7:26731400-26732200	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr7:26731400-26732200	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr7:26731600-26732000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:26731600-26732000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:26731600-26732200	Enhancers	H1 Cell Line	embryonic stem cell
41	chr7:26731600-26732200	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr7:26731800-26732000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr7:26731800-26732200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:26731800-26733000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr7:26731800-26734600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr7:26731800-26737800	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr7:26731800-26743800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr7:26731800-26779200	Weak transcription	Spleen	Spleen

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