Variant report

Variant	rs1964219
Chromosome Location	chr7:6203848-6203849
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6202248..6204197-chr7:6205375..6207619,2	K562	blood:
2	chr7:6194450..6196699-chr7:6202081..6204089,2	MCF-7	breast:
3	chr7:6203205..6205349-chr7:6208114..6211098,2	K562	blood:
4	chr7:6198247..6199856-chr7:6202022..6204046,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000008256	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10249091	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10281120	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12666407	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12667859	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12671407	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17188097	0.82[AMR][1000 genomes]
rs2098800	0.86[AMR][1000 genomes]
rs2158639	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3750065	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3828952	0.93[EUR][1000 genomes]
rs57081447	1.00[EUR][1000 genomes]
rs57153401	0.94[EUR][1000 genomes]
rs9791591	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	nsv1021037	chr7:6070792-6426966	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv538713	chr7:6070792-6426966	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	esv1795897	chr7:6170251-6212118	Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
11	nsv522155	chr7:6172654-6212656	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
12	nsv530989	chr7:6176729-6438197	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
13	nsv527386	chr7:6187783-6208369	Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
14	nsv818475	chr7:6187783-6212656	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
15	nsv522217	chr7:6189780-6212656	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
16	nsv887426	chr7:6190126-6212656	Strong transcription Genic enhancers Weak transcription Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
17	nsv887427	chr7:6190126-6213396	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6146800-6218200	Weak transcription	Stomach Mucosa	stomach
2	chr7:6167400-6205600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr7:6173200-6204800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:6173800-6205000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:6174200-6204800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr7:6175400-6204200	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr7:6178200-6204600	Strong transcription	Thymus	Thymus
8	chr7:6180200-6204800	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr7:6181200-6205400	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr7:6181200-6211800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:6183800-6205400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:6184000-6205200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:6184000-6218600	Strong transcription	Fetal Intestine Small	intestine
14	chr7:6184200-6205400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:6190000-6211200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr7:6192400-6204000	Weak transcription	HMEC	breast
17	chr7:6194600-6211400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:6196600-6205200	Strong transcription	A549	lung
19	chr7:6197600-6210800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:6198000-6206400	Weak transcription	HepG2	liver
21	chr7:6198200-6205600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr7:6198600-6211200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr7:6198800-6220000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr7:6199200-6208600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr7:6199200-6219200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr7:6199400-6213800	Strong transcription	Fetal Intestine Large	intestine
27	chr7:6199800-6204800	Strong transcription	Primary T cells from cord blood	blood
28	chr7:6200000-6207400	Weak transcription	Fetal Brain Male	brain
29	chr7:6200000-6209600	Weak transcription	Brain Angular Gyrus	brain
30	chr7:6200200-6204200	Weak transcription	Aorta	Aorta
31	chr7:6200200-6204400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:6200200-6204400	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr7:6200200-6209200	Strong transcription	Placenta	Placenta
34	chr7:6200400-6204200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr7:6200400-6204400	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr7:6200400-6212600	Weak transcription	HUVEC	blood vessel
37	chr7:6200600-6204200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:6200600-6204600	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr7:6200600-6206600	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr7:6200600-6210000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:6200800-6210400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr7:6201000-6204800	Strong transcription	Osteobl	bone
43	chr7:6201000-6206000	Weak transcription	Primary B cells from cord blood	blood
44	chr7:6201200-6204200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr7:6201200-6204800	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr7:6201200-6205200	Strong transcription	HSMMtube	muscle
47	chr7:6201200-6205600	Strong transcription	Lung	lung
48	chr7:6201200-6205800	Strong transcription	Brain Anterior Caudate	brain
49	chr7:6201200-6205800	Strong transcription	Brain Germinal Matrix	brain
50	chr7:6201200-6208800	Genic enhancers	Fetal Muscle Leg	muscle

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