Variant report

Variant	rs7251605
Chromosome Location	chr19:52711320-52711321
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:52709631..52712129-chr19:52729656..52731766,2	K562	blood:
2	chr19:52704657..52706371-chr19:52710278..52712411,2	MCF-7	breast:
3	chr19:52702447..52705183-chr19:52709566..52712724,3	K562	blood:

Variant related genes	Relation type
ENSG00000105568	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10520481	1.00[JPT][hapmap]
rs1147	1.00[CHD][hapmap]
rs13344871	1.00[JPT][hapmap]
rs16983537	1.00[JPT][hapmap]
rs16983625	1.00[JPT][hapmap]
rs16983630	1.00[JPT][hapmap]
rs2002322	1.00[JPT][hapmap]
rs2560903	1.00[JPT][hapmap]
rs2657929	1.00[JPT][hapmap]
rs2657932	1.00[JPT][hapmap]
rs7249460	1.00[JPT][hapmap]
rs7251497	1.00[JPT][hapmap]
rs8107383	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065410	chr19:52103914-52889530	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS 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 miRNA target site	596 gene(s)	inside rSNPs	diseases
2	esv3366000	chr19:52491073-52842946	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv1066015	chr19:52502213-52890308	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv544059	chr19:52502213-52890308	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52694600-52732800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:52695400-52732200	Strong transcription	Fetal Lung	lung
3	chr19:52695400-52733200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr19:52695600-52717400	Strong transcription	Primary hematopoietic stem cells	blood
5	chr19:52696000-52723000	Strong transcription	Fetal Muscle Trunk	muscle
6	chr19:52696000-52732200	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr19:52696000-52732400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr19:52696000-52733000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr19:52696200-52729200	Strong transcription	Fetal Intestine Large	intestine
10	chr19:52696200-52732400	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr19:52696200-52732400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr19:52696200-52732400	Strong transcription	Primary B cells from cord blood	blood
13	chr19:52697600-52732400	Strong transcription	Sigmoid Colon	Sigmoid Colon
14	chr19:52697600-52733200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr19:52697800-52732200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr19:52697800-52732400	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr19:52697800-52732400	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr19:52697800-52732600	Strong transcription	Primary T cells from cord blood	blood
19	chr19:52697800-52733000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr19:52698000-52730400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr19:52698000-52732200	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr19:52698000-52732200	Strong transcription	Dnd41	blood
23	chr19:52698200-52714400	Weak transcription	Stomach Mucosa	stomach
24	chr19:52698200-52732000	Strong transcription	GM12878-XiMat	blood
25	chr19:52698200-52732400	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr19:52698200-52732400	Strong transcription	HepG2	liver
27	chr19:52698200-52732600	Strong transcription	Fetal Brain Female	brain
28	chr19:52698400-52732400	Strong transcription	Fetal Thymus	thymus
29	chr19:52698600-52732000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr19:52698800-52732400	Strong transcription	Liver	Liver
31	chr19:52700200-52712600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr19:52700800-52732200	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr19:52702200-52731800	Strong transcription	Primary B cells from peripheral blood	blood
34	chr19:52702200-52732200	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr19:52702600-52732200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr19:52703000-52731600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr19:52703000-52732600	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr19:52703000-52734600	Strong transcription	Fetal Stomach	stomach
39	chr19:52703200-52714400	Strong transcription	Placenta	Placenta
40	chr19:52703200-52731200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr19:52703200-52732200	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr19:52703200-52732400	Strong transcription	H9 Cell Line	embryonic stem cell
43	chr19:52703200-52732400	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr19:52703200-52732800	Strong transcription	Brain Germinal Matrix	brain
45	chr19:52703200-52733200	Strong transcription	Duodenum Mucosa	Duodenum
46	chr19:52703200-52734000	Strong transcription	Lung	lung
47	chr19:52703400-52724200	Strong transcription	Gastric	stomach
48	chr19:52703400-52726400	Strong transcription	Fetal Intestine Small	intestine
49	chr19:52703600-52711400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr19:52703600-52716200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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