Variant report

Variant	rs6948624
Chromosome Location	chr7:6499964-6499965
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6499949..6501557-chr7:6518916..6521343,2	MCF-7	breast:
2	chr7:6499717..6507603-chr7:6511410..6517764,12	K562	blood:
3	chr7:6487071..6489296-chr7:6498689..6501637,2	MCF-7	breast:
4	chr7:6486167..6489212-chr7:6498721..6504081,5	MCF-7	breast:
5	chr7:6495113..6497493-chr7:6497529..6500079,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164535	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12702517	0.91[ASN][1000 genomes]
rs2230263	0.88[EUR][1000 genomes]
rs4724811	0.91[ASN][1000 genomes]
rs4724812	0.91[ASN][1000 genomes]
rs6463560	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs6463564	0.88[ASN][1000 genomes]
rs6463565	0.87[ASN][1000 genomes]
rs6963194	0.87[ASN][1000 genomes]
rs7778023	0.86[ASN][1000 genomes]
rs7788091	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7796667	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
3	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
5	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
6	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
7	nsv1020236	chr7:6248930-6690377	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv497874	chr7:6296768-6614902	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
9	esv1824738	chr7:6431933-6554222	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	esv1825865	chr7:6431933-6554222	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv971152	chr7:6485642-6509340	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
12	nsv1026878	chr7:6490387-6592374	Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6488200-6500200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr7:6488200-6500800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr7:6488400-6500200	Weak transcription	HSMMtube	muscle
4	chr7:6488400-6505200	Weak transcription	Fetal Brain Male	brain
5	chr7:6488400-6505600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:6488400-6505600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:6488600-6500000	Weak transcription	Primary T cells from cord blood	blood
8	chr7:6488800-6500000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:6488800-6500000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr7:6488800-6500000	Weak transcription	Adipose Nuclei	Adipose
11	chr7:6488800-6500000	Weak transcription	Liver	Liver
12	chr7:6488800-6500000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr7:6488800-6500200	Weak transcription	Brain Germinal Matrix	brain
14	chr7:6488800-6500200	Weak transcription	Spleen	Spleen
15	chr7:6488800-6500800	Weak transcription	Primary B cells from cord blood	blood
16	chr7:6488800-6500800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr7:6488800-6501000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr7:6488800-6505200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr7:6488800-6505200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr7:6488800-6505600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr7:6489000-6500000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr7:6489000-6500000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr7:6489000-6500000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr7:6489000-6500000	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr7:6489000-6500200	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr7:6489000-6500200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr7:6489000-6500200	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr7:6489000-6500200	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr7:6489000-6500200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr7:6489000-6500200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr7:6489000-6500200	Weak transcription	GM12878-XiMat	blood
32	chr7:6489000-6500400	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr7:6489000-6500600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:6489000-6500600	Weak transcription	Primary B cells from peripheral blood	blood
35	chr7:6489000-6501000	Weak transcription	Aorta	Aorta
36	chr7:6489200-6500000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:6489200-6500000	Weak transcription	Fetal Thymus	thymus
38	chr7:6489200-6500200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr7:6489200-6500400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr7:6489200-6500400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr7:6489200-6500400	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr7:6489200-6500800	Weak transcription	Dnd41	blood
43	chr7:6489200-6502000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr7:6490400-6500600	Weak transcription	HepG2	liver
45	chr7:6491000-6500200	Weak transcription	Duodenum Mucosa	Duodenum
46	chr7:6491200-6500000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr7:6491400-6500000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr7:6493800-6500000	Weak transcription	Brain Anterior Caudate	brain
49	chr7:6493800-6500000	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr7:6493800-6500000	Weak transcription	Stomach Smooth Muscle	stomach

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