Variant report

Variant	rs6949447
Chromosome Location	chr7:2842036-2842037
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:2798496..2801749-chr7:2841464..2845020,4	MCF-7	breast:
2	chr7:2841055..2843126-chr7:2902471..2904345,2	MCF-7	breast:
3	chr7:2836297..2839698-chr7:2841908..2844688,4	K562	blood:
4	chr7:2835435..2836946-chr7:2841542..2843166,2	MCF-7	breast:
5	chr7:2832115..2834108-chr7:2841664..2843716,2	MCF-7	breast:
6	chr7:2840989..2843373-chr7:2899244..2901944,2	MCF-7	breast:
7	chr7:2841478..2843040-chr7:2849710..2851515,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000146535	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs6944195	0.88[AFR][1000 genomes]
rs7809463	0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029250	chr7:2722737-2881021	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv538652	chr7:2722737-2881021	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1015700	chr7:2753965-2945848	Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1022612	chr7:2789555-3019200	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv1018162	chr7:2817460-2891181	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	nsv538655	chr7:2817460-2891181	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:2810600-2842600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:2824000-2842800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:2830200-2842800	Weak transcription	Colonic Mucosa	Colon
4	chr7:2832800-2842600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr7:2833000-2842400	Weak transcription	Spleen	Spleen
6	chr7:2833200-2842400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:2834600-2842400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:2834600-2847800	Weak transcription	Liver	Liver
9	chr7:2834800-2842200	Weak transcription	Brain Germinal Matrix	brain
10	chr7:2834800-2842400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr7:2835000-2842200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:2835200-2842400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr7:2836600-2842400	Weak transcription	Fetal Kidney	kidney
14	chr7:2836600-2844600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:2837000-2842400	Weak transcription	Psoas Muscle	Psoas
16	chr7:2837000-2850600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr7:2837600-2842200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr7:2838000-2842800	Enhancers	Primary hematopoietic stem cells	blood
19	chr7:2838600-2842200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:2838600-2844200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr7:2839000-2842200	Enhancers	Fetal Lung	lung
22	chr7:2839400-2843600	Enhancers	Dnd41	blood
23	chr7:2839400-2848600	Enhancers	Fetal Heart	heart
24	chr7:2839400-2850800	Weak transcription	Primary B cells from cord blood	blood
25	chr7:2839600-2842200	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr7:2839600-2842600	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr7:2839600-2843400	Enhancers	Fetal Muscle Leg	muscle
28	chr7:2839600-2845000	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr7:2839800-2842400	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr7:2840000-2844200	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr7:2840000-2844200	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr7:2840200-2845200	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr7:2840400-2842200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr7:2840400-2842200	Enhancers	Adipose Nuclei	Adipose
35	chr7:2840400-2842200	Enhancers	Fetal Intestine Small	intestine
36	chr7:2840400-2842400	Enhancers	Fetal Intestine Large	intestine
37	chr7:2840400-2843200	Enhancers	HSMMtube	muscle
38	chr7:2840400-2846200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr7:2840600-2842200	Enhancers	Fetal Brain Male	brain
40	chr7:2840600-2842200	Enhancers	HSMM	muscle
41	chr7:2840600-2842200	Enhancers	NHLF	lung
42	chr7:2840600-2842400	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr7:2840600-2842600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr7:2840600-2844000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr7:2840800-2842200	Enhancers	Muscle Satellite Cultured Cells	--
46	chr7:2840800-2842200	Enhancers	Fetal Brain Female	brain
47	chr7:2840800-2842200	Enhancers	Hela-S3	cervix
48	chr7:2840800-2842800	Enhancers	HMEC	breast
49	chr7:2840800-2843000	Enhancers	Stomach Mucosa	stomach
50	chr7:2840800-2843400	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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