Variant report

Variant	rs10229834
Chromosome Location	chr7:2750047-2750048
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:2737260..2740261-chr7:2747906..2751083,3	K562	blood:
2	chr7:2651950..2654587-chr7:2749011..2751356,2	K562	blood:
3	chr7:2744927..2748584-chr7:2749019..2753135,4	MCF-7	breast:
4	chr7:2749256..2751916-chr7:2756659..2758882,3	K562	blood:
5	chr7:2727165..2732362-chr7:2746794..2750552,7	MCF-7	breast:
6	chr7:2749908..2752648-chr7:2759444..2761951,3	MCF-7	breast:
7	chr7:2747802..2752072-chr7:2752381..2756617,8	K562	blood:
8	chr7:2727069..2729394-chr7:2748940..2750951,2	MCF-7	breast:
9	chr7:2748815..2750659-chr7:2753960..2755494,2	MCF-7	breast:
10	chr7:2749388..2752316-chr7:2798126..2801115,2	K562	blood:
11	chr7:2745102..2748560-chr7:2749032..2751394,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000146535	Chromatin interaction
ENSG00000174945	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10229817	0.82[YRI][hapmap]
rs10229934	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11765386	1.00[JPT][hapmap]
rs11765726	1.00[JPT][hapmap]
rs17132636	1.00[JPT][hapmap]
rs17132663	1.00[JPT][hapmap]
rs7783796	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv471227	chr7:2629020-2768864	Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv518027	chr7:2643607-2753667	Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1015695	chr7:2654768-2754025	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv538651	chr7:2654768-2754025	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv887309	chr7:2664214-2763102	Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv605869	chr7:2672972-2752487	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
7	nsv887312	chr7:2707822-2763102	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv1029250	chr7:2722737-2881021	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv538652	chr7:2722737-2881021	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv1024023	chr7:2726210-2829581	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv538653	chr7:2726210-2829581	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:2741800-2753200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr7:2742000-2751800	Weak transcription	NHLF	lung
3	chr7:2742200-2765600	Weak transcription	HSMM	muscle
4	chr7:2746000-2750800	Enhancers	Placenta	Placenta
5	chr7:2746600-2753000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr7:2747800-2753800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:2748200-2750200	Enhancers	Fetal Muscle Leg	muscle
8	chr7:2748200-2750400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr7:2748400-2750400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:2748400-2751000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:2748400-2751200	Flanking Active TSS	GM12878-XiMat	blood
12	chr7:2748400-2751400	Enhancers	Primary hematopoietic stem cells	blood
13	chr7:2748400-2752000	Enhancers	Primary B cells from cord blood	blood
14	chr7:2748600-2750200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:2748600-2751200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr7:2748600-2751400	Bivalent Enhancer	Fetal Thymus	thymus
17	chr7:2748800-2750600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:2748800-2755400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr7:2749000-2750400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
20	chr7:2749000-2750400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
21	chr7:2749000-2750400	Enhancers	Spleen	Spleen
22	chr7:2749000-2750800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
23	chr7:2749000-2750800	Flanking Active TSS	Primary B cells from peripheral blood	blood
24	chr7:2749000-2753400	Enhancers	Dnd41	blood
25	chr7:2749000-2760800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr7:2749200-2750200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:2749200-2750400	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr7:2749200-2750800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
29	chr7:2749200-2751000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
30	chr7:2749200-2751200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr7:2749400-2750200	Bivalent Enhancer	Fetal Stomach	stomach
32	chr7:2749400-2751000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr7:2749400-2754800	Weak transcription	Fetal Brain Female	brain
34	chr7:2749400-2755600	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr7:2749400-2770600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr7:2749600-2750200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:2749600-2750200	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr7:2749600-2750200	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
39	chr7:2749600-2750200	Enhancers	Liver	Liver
40	chr7:2749600-2750200	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr7:2749600-2750200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
42	chr7:2749600-2750400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr7:2749600-2750400	Bivalent Enhancer	Fetal Intestine Small	intestine
44	chr7:2749600-2750600	Weak transcription	Esophagus	oesophagus
45	chr7:2749600-2750800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:2749600-2751800	Weak transcription	Left Ventricle	heart
47	chr7:2749600-2752200	Weak transcription	Ovary	ovary
48	chr7:2749800-2750200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr7:2749800-2750200	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr7:2749800-2750400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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