Variant report

Variant	rs1203848
Chromosome Location	chr4:2512463-2512464
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:2511981-2512575	HL-60	blood:	n/a	n/a
2	POLR2A	chr4:2512092-2512722	H1-hESC	embryonic stem cell:	n/a	n/a
3	MTA3	chr4:2512448-2512952	GM12878	blood:	n/a	n/a
4	POLR2A	chr4:2511124-2515534	GM12892	blood:	n/a	n/a
5	POLR2A	chr4:2512071-2512510	GM12878	blood:	n/a	n/a
6	POLR2A	chr4:2511971-2515038	GM12891	blood:	n/a	n/a
7	POLR2A	chr4:2511305-2512997	K562	blood:	n/a	n/a
8	POLR2A	chr4:2512120-2512924	GM12878	blood:	n/a	n/a
9	POLR2A	chr4:2511176-2515634	GM12892	blood:	n/a	n/a
10	POLR2A	chr4:2512173-2512698	GM12878	blood:	n/a	n/a
11	POLR2A	chr4:2512042-2515918	GM12892	blood:	n/a	n/a
12	POLR2A	chr4:2512459-2512650	GM12878	blood:	n/a	n/a
13	POLR2A	chr4:2512338-2512818	GM12878	blood:	n/a	n/a
14	EBF1	chr4:2512354-2513076	GM12878	blood:	n/a	n/a
15	POLR2A	chr4:2512019-2512609	K562	blood:	n/a	n/a
16	POLR2A	chr4:2512431-2512519	K562	blood:	n/a	n/a
17	POLR2A	chr4:2511992-2513606	GM12878	blood:	n/a	n/a
18	POLR2A	chr4:2511368-2512918	K562	blood:	n/a	n/a
19	POLR2A	chr4:2511815-2517361	GM12878	blood:	n/a	n/a
20	POLR2A	chr4:2511891-2512598	SK-N-MC	brain:	n/a	n/a
21	POLR2A	chr4:2512080-2513656	GM12891	blood:	n/a	n/a
22	POLR2A	chr4:2511903-2513631	GM12891	blood:	n/a	n/a
23	POLR2A	chr4:2512023-2515285	GM12892	blood:	n/a	n/a
24	POLR2A	chr4:2511928-2512990	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:2511300..2513003-chr4:2513100..2515389,2	K562	blood:
2	chr4:2503681..2505627-chr4:2510647..2513276,2	MCF-7	breast:
3	chr4:2511930..2514115-chr4:2515656..2518160,3	K562	blood:
4	chr4:2511117..2513840-chr4:2520323..2523158,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000251229	TF binding region
RNF4	TF binding region
ENSG00000063978	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1070968	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1203847	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1203857	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs231706	1.00[CEU][hapmap]
rs846253	0.86[ASW][hapmap];0.82[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432548	chr4:1725009-2652494	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv948659	chr4:1828867-2815632	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
3	nsv1012665	chr4:2045458-2517751	Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1009347	chr4:2202662-2517790	Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv518472	chr4:2348405-2516418	Enhancers Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2475400-2518600	Strong transcription	Dnd41	blood
2	chr4:2477000-2518600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:2487000-2522400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:2489000-2520800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr4:2489600-2520400	Strong transcription	Fetal Intestine Small	intestine
6	chr4:2489800-2518600	Strong transcription	Fetal Thymus	thymus
7	chr4:2490200-2518000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr4:2490800-2518200	Strong transcription	H1 Cell Line	embryonic stem cell
9	chr4:2490800-2518400	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr4:2490800-2518400	Strong transcription	Fetal Intestine Large	intestine
11	chr4:2490800-2518600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:2491000-2517600	Strong transcription	Fetal Muscle Leg	muscle
13	chr4:2491000-2518200	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr4:2491000-2518600	Strong transcription	Fetal Brain Female	brain
15	chr4:2491200-2518200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr4:2491200-2518600	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr4:2491200-2519800	Strong transcription	Sigmoid Colon	Sigmoid Colon
18	chr4:2491600-2518600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:2491800-2517800	Strong transcription	Fetal Muscle Trunk	muscle
20	chr4:2495000-2518400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:2495000-2518600	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr4:2495800-2517800	Weak transcription	Psoas Muscle	Psoas
23	chr4:2497200-2520400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr4:2497400-2517800	Strong transcription	Duodenum Mucosa	Duodenum
25	chr4:2498200-2517600	Weak transcription	Right Atrium	heart
26	chr4:2499400-2518200	Weak transcription	Small Intestine	intestine
27	chr4:2500600-2518200	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr4:2500600-2518600	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr4:2501400-2516200	Strong transcription	K562	blood
30	chr4:2502200-2516600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr4:2502400-2517600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr4:2503200-2517400	Weak transcription	Fetal Heart	heart
33	chr4:2503200-2519200	Weak transcription	Fetal Brain Male	brain
34	chr4:2503400-2515000	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr4:2504000-2514600	Weak transcription	Stomach Mucosa	stomach
36	chr4:2504000-2518600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr4:2504000-2519000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr4:2505800-2513600	Weak transcription	Right Ventricle	heart
39	chr4:2506600-2520400	Strong transcription	Thymus	Thymus
40	chr4:2506800-2518000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr4:2507200-2518200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr4:2507200-2518400	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr4:2507200-2518800	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr4:2507200-2519200	Strong transcription	Fetal Stomach	stomach
45	chr4:2507600-2516800	Strong transcription	Primary B cells from cord blood	blood
46	chr4:2507600-2517600	Strong transcription	Stomach Smooth Muscle	stomach
47	chr4:2507600-2517800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr4:2507600-2518000	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr4:2507600-2518600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr4:2507600-2518600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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