Variant report

Variant	rs231706
Chromosome Location	chr4:2693979-2693980
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RELA	chr4:2693671-2694312	GM12891	blood:	n/a	n/a
2	RUNX3	chr4:2693562-2694238	GM12878	blood:	n/a	n/a
3	YY1	chr4:2693567-2694165	GM12892	blood:	n/a	n/a
4	MTA3	chr4:2693445-2694326	GM12878	blood:	n/a	n/a
5	PAX5	chr4:2693799-2694233	GM12878	blood:	n/a	n/a
6	RUNX3	chr4:2693577-2694385	GM12878	blood:	n/a	n/a
7	TCF12	chr4:2693834-2694079	GM12878	blood:	n/a	n/a
8	ZBTB33	chr4:2693791-2694233	GM12878	blood:	n/a	n/a
9	YY1	chr4:2693861-2694248	GM12878	blood:	n/a	n/a
10	POLR2A	chr4:2693536-2694304	GM12878	blood:	n/a	n/a
11	YY1	chr4:2693565-2694288	GM12878	blood:	n/a	n/a
12	SP1	chr4:2693725-2694156	GM12878	blood:	n/a	n/a
13	ATF2	chr4:2693689-2694309	GM12878	blood:	n/a	n/a
14	YY1	chr4:2693826-2694132	GM12891	blood:	n/a	n/a
15	NFIC	chr4:2693533-2694251	GM12878	blood:	n/a	n/a
16	CHD2	chr4:2693891-2694296	GM12878	blood:	n/a	n/a
17	PAX5	chr4:2693789-2694245	GM12878	blood:	n/a	n/a
18	PAX5	chr4:2693895-2694173	GM12878	blood:	n/a	n/a
19	EBF1	chr4:2693774-2694129	GM12878	blood:	n/a	n/a
20	POLR2A	chr4:2693769-2694437	GM12878	blood:	n/a	n/a
21	STAT3	chr4:2693567-2694136	GM12878	blood:	n/a	n/a
22	EP300	chr4:2693670-2694152	GM12878	blood:	n/a	n/a
23	EP300	chr4:2693706-2694181	GM12878	blood:	n/a	n/a
24	BHLHE40	chr4:2693799-2694411	GM12878	blood:	n/a	n/a
25	PAX5	chr4:2693737-2694336	GM12878	blood:	n/a	n/a
26	BCL11A	chr4:2693791-2694131	GM12878	blood:	n/a	n/a
27	FOXM1	chr4:2693716-2694244	GM12878	blood:	n/a	n/a
28	CUX1	chr4:2693721-2694262	GM12878	blood:	n/a	n/a
29	BCLAF1	chr4:2693915-2694205	GM12878	blood:	n/a	n/a
30	EBF1	chr4:2693688-2694318	GM12878	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:2686800..2688519-chr4:2692243..2694641,2	MCF-7	breast:
2	chr4:2693061..2695542-chr4:2698679..2700261,2	K562	blood:
3	chr4:2691900..2694094-chr4:2704691..2707252,2	MCF-7	breast:

No data

Variant related genes	Relation type
FAM193A	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10026792	1.00[CHB][hapmap]
rs11935873	1.00[CHB][hapmap]
rs1203847	1.00[CEU][hapmap]
rs1203848	1.00[CEU][hapmap]
rs16843481	1.00[CHB][hapmap]
rs16843535	1.00[CHB][hapmap]
rs1709004	1.00[CEU][hapmap]
rs17833172	1.00[CHB][hapmap]
rs17833250	1.00[CHB][hapmap]
rs1877723	1.00[CHB][hapmap]
rs231696	1.00[CHB][hapmap]
rs41528047	1.00[CHB][hapmap]
rs7677070	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1003409	chr4:2541224-2724199	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv878443	chr4:2598799-2731331	Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1005116	chr4:2633935-2812340	Bivalent/Poised TSS Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv470001	chr4:2680515-2723531	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv593434	chr4:2688719-2737140	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv878444	chr4:2689449-2861090	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2638200-2724400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:2673600-2714400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:2673800-2698000	Weak transcription	Fetal Heart	heart
4	chr4:2674200-2695600	Weak transcription	Stomach Mucosa	stomach
5	chr4:2675200-2698200	Weak transcription	Psoas Muscle	Psoas
6	chr4:2677400-2698200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr4:2679400-2712600	Strong transcription	Fetal Stomach	stomach
8	chr4:2680200-2712800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:2680400-2712200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:2680800-2710200	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr4:2681600-2712600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr4:2682000-2695200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:2682000-2699400	Strong transcription	Fetal Intestine Large	intestine
14	chr4:2682000-2706000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr4:2682000-2707600	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr4:2682000-2708000	Strong transcription	Dnd41	blood
17	chr4:2682200-2708000	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr4:2682600-2707200	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr4:2682600-2709800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:2682800-2710000	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr4:2683000-2699200	Strong transcription	Liver	Liver
22	chr4:2683000-2707200	Strong transcription	Placenta	Placenta
23	chr4:2683200-2706400	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr4:2683200-2710000	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr4:2683400-2710400	Strong transcription	Osteobl	bone
26	chr4:2684000-2706800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr4:2684000-2707000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr4:2684400-2706600	Strong transcription	Primary T cells from cord blood	blood
29	chr4:2684600-2698600	Strong transcription	HepG2	liver
30	chr4:2684600-2710400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr4:2684600-2710800	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr4:2684800-2707000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr4:2685000-2696200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr4:2685000-2710000	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr4:2685200-2705400	Strong transcription	Fetal Lung	lung
36	chr4:2685200-2707200	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr4:2685200-2711000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr4:2685400-2698200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr4:2685400-2706600	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr4:2685400-2707200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr4:2685400-2707200	Strong transcription	Duodenum Mucosa	Duodenum
42	chr4:2685400-2707400	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr4:2685400-2708000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr4:2685400-2708800	Strong transcription	Fetal Thymus	thymus
45	chr4:2685400-2709200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr4:2685600-2696400	Strong transcription	Brain Inferior Temporal Lobe	brain
47	chr4:2685600-2699400	Strong transcription	Gastric	stomach
48	chr4:2685600-2700000	Strong transcription	Colon Smooth Muscle	Colon
49	chr4:2685600-2705400	Strong transcription	Brain Substantia Nigra	brain
50	chr4:2685600-2706600	Strong transcription	Brain Anterior Caudate	brain

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