Variant report

Variant	rs28371838
Chromosome Location	chr7:10968890-10968891
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	chr7:10966685..10968984-chr7:10971328..10972857,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10227124	0.90[AFR][1000 genomes]
rs10247277	1.00[AFR][1000 genomes]
rs10262385	1.00[AMR][1000 genomes]
rs28498856	1.00[AMR][1000 genomes]
rs28599483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28628348	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28654683	1.00[AMR][1000 genomes]
rs73680724	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067780	chr7:10649696-11329787	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv491695	chr7:10649696-11329787	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1018905	chr7:10679889-10980691	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv1019888	chr7:10712858-11496785	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv1029836	chr7:10713523-11492751	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv538730	chr7:10713523-11492751	Weak transcription Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv532092	chr7:10731350-11414759	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv887600	chr7:10807685-11090546	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv1024171	chr7:10810444-11559156	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
10	nsv949387	chr7:10815994-11281536	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
11	esv2752140	chr7:10817060-11029748	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv1017291	chr7:10853615-10971712	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
13	nsv1029882	chr7:10872162-11371145	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	nsv817291	chr7:10875417-11562683	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
15	nsv1031498	chr7:10882696-11110412	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
16	nsv464364	chr7:10904752-10988866	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
17	nsv606193	chr7:10904752-10988866	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
18	nsv887601	chr7:10912949-11049523	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:10952800-10970600	Weak transcription	Right Atrium	heart
2	chr7:10953400-10970400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:10958000-10972200	Weak transcription	Ovary	ovary
4	chr7:10958200-10970000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr7:10958600-10970400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr7:10959400-10971800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:10959800-10971600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:10960200-10971600	Weak transcription	Left Ventricle	heart
9	chr7:10960400-10974600	Weak transcription	Fetal Heart	heart
10	chr7:10962600-10971600	Weak transcription	K562	blood
11	chr7:10963200-10978400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr7:10963400-10969800	Weak transcription	Thymus	Thymus
13	chr7:10963600-10971600	Weak transcription	Dnd41	blood
14	chr7:10963800-10969800	Weak transcription	Fetal Thymus	thymus
15	chr7:10963800-10972200	Weak transcription	Placenta	Placenta
16	chr7:10964200-10970200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr7:10964200-10975200	Weak transcription	Esophagus	oesophagus
18	chr7:10964400-10971600	Weak transcription	Fetal Lung	lung
19	chr7:10964800-10970200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:10965200-10970600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:10966600-10971600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr7:10966800-10970400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr7:10967000-10970200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr7:10967000-10970600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr7:10967000-10975000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr7:10967000-10975000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr7:10967400-10971600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr7:10967400-10972200	Weak transcription	HepG2	liver
29	chr7:10967600-10971600	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr7:10968000-10970400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr7:10968200-10970000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:10968200-10970600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr7:10968200-10972000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr7:10968200-10973600	Weak transcription	Aorta	Aorta
35	chr7:10968400-10970000	Weak transcription	Brain Germinal Matrix	brain
36	chr7:10968400-10970200	Weak transcription	Fetal Muscle Leg	muscle
37	chr7:10968400-10971800	Weak transcription	Small Intestine	intestine
38	chr7:10968400-10974600	Weak transcription	Brain Angular Gyrus	brain
39	chr7:10968400-10975000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr7:10968600-10970200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr7:10968600-10970200	Weak transcription	Primary T cells from cord blood	blood
42	chr7:10968600-10970200	Weak transcription	Fetal Brain Female	brain
43	chr7:10968600-10970200	Weak transcription	Fetal Muscle Trunk	muscle
44	chr7:10968600-10970600	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr7:10968600-10971600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:10968600-10974200	Weak transcription	Colon Smooth Muscle	Colon
47	chr7:10968800-10969000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr7:10968800-10970400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr7:10968800-10970400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr7:10968800-10970400	Weak transcription	Primary T cells fromperipheralblood	blood

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