Variant report

Variant	rs11622821
Chromosome Location	chr14:68112434-68112435
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:68111830-68112638	A549	lung:	n/a	n/a
2	POLR2A	chr14:68112099-68112492	GM12892	blood:	n/a	n/a
3	POLR2A	chr14:68112173-68112572	K562	blood:	n/a	n/a
4	POLR2A	chr14:68112159-68112857	GM12892	blood:	n/a	n/a
5	POLR2A	chr14:68112123-68112615	GM12878	blood:	n/a	n/a
6	POLR2A	chr14:68112064-68112585	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr14:68111987-68112596	GM12891	blood:	n/a	n/a
8	POLR2A	chr14:68111839-68112742	SK-N-MC	brain:	n/a	n/a
9	POLR2A	chr14:68111870-68112648	MCF-7	breast:	n/a	n/a
10	POLR2A	chr14:68112297-68112543	K562	blood:	n/a	n/a
11	POLR2A	chr14:68111755-68121472	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:68111577..68114735-chr14:68140017..68142397,5	MCF-7	breast:

Variant related genes	Relation type
ARG2	TF binding region
ENSG00000100568	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12587985	1.00[LWK][hapmap]
rs7156206	1.00[CHB][hapmap];1.00[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv902068	chr14:68083133-68204876	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68088000-68112600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:68088800-68123000	Weak transcription	Fetal Brain Male	brain
3	chr14:68089600-68116200	Weak transcription	Fetal Kidney	kidney
4	chr14:68089800-68113400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr14:68090000-68114800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr14:68090000-68115800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr14:68091800-68116600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr14:68100600-68114600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr14:68101600-68114200	Weak transcription	Primary B cells from peripheral blood	blood
10	chr14:68103400-68112800	Weak transcription	HSMMtube	muscle
11	chr14:68105800-68112800	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr14:68106000-68113200	Weak transcription	Psoas Muscle	Psoas
13	chr14:68106000-68114800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr14:68106800-68113000	Weak transcription	NH-A	brain
15	chr14:68107600-68115400	Weak transcription	NHLF	lung
16	chr14:68108600-68115600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr14:68108800-68112800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr14:68109000-68113200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr14:68109000-68130000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr14:68109000-68133200	Weak transcription	Stomach Mucosa	stomach
21	chr14:68109200-68115800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr14:68109400-68112800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr14:68109400-68116800	Strong transcription	NHEK	skin
24	chr14:68109800-68115200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr14:68109800-68124400	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr14:68109800-68126000	Strong transcription	Fetal Brain Female	brain
27	chr14:68110400-68115600	Weak transcription	Gastric	stomach
28	chr14:68110600-68112800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr14:68110600-68113000	Weak transcription	Primary hematopoietic stem cells	blood
30	chr14:68110600-68113400	Enhancers	Fetal Heart	heart
31	chr14:68110800-68112600	Weak transcription	Ovary	ovary
32	chr14:68110800-68112800	Weak transcription	NHDF-Ad	bronchial
33	chr14:68110800-68113000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr14:68110800-68115800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr14:68110800-68115800	Weak transcription	Small Intestine	intestine
36	chr14:68110800-68116600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr14:68111000-68112600	Weak transcription	Fetal Lung	lung
38	chr14:68111000-68112600	Weak transcription	Rectal Smooth Muscle	rectum
39	chr14:68111000-68112800	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr14:68111000-68112800	Weak transcription	Primary B cells from cord blood	blood
41	chr14:68111000-68113400	Weak transcription	Fetal Thymus	thymus
42	chr14:68111000-68114800	Weak transcription	HMEC	breast
43	chr14:68111000-68115000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr14:68111000-68115600	Weak transcription	Fetal Stomach	stomach
45	chr14:68111000-68126800	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr14:68111000-68135200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr14:68111200-68112600	Strong transcription	HUVEC	blood vessel
48	chr14:68111200-68113000	Weak transcription	Brain Substantia Nigra	brain
49	chr14:68111200-68114400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr14:68111200-68115600	Weak transcription	Colonic Mucosa	Colon

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